Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

Shankar Baskar, Michael John Ackerman, Diane Clements, Kenneth A. Mayuga, Peter F. Aziz

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

Original languageEnglish (US)
Pages (from-to)1050-1052
Number of pages3
JournalJournal of Pediatrics
Volume165
Issue number5
DOIs
StatePublished - Nov 1 2014

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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